Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148881970
rs148881970
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		G 0.700 CausalMutation CLINVAR Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB. 26907177

2016
dbSNP: rs148881970
rs148881970
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		G 0.700 CausalMutation CLINVAR Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III. 25256447

2015
dbSNP: rs148881970
rs148881970
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		G 0.700 CausalMutation CLINVAR A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions. 21712855

2012
dbSNP: rs148881970
rs148881970
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		G 0.700 CausalMutation CLINVAR Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia. 20040070

2010
dbSNP: rs148881970
rs148881970
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		G 0.700 CausalMutation CLINVAR Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. 20852935

2010
dbSNP: rs148881970
rs148881970
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		G 0.700 CausalMutation CLINVAR Genotype-phenotype correspondence in Sanfilippo syndrome type B. 9443875

1998
dbSNP: rs148881970
rs148881970
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		G 0.700 GeneticVariation CLINVAR